Table 4.
PITX3 human mutations
| Nuc. Pos. | AA Pos. | Vt | AD/AR | Prot. Func. | AA Con. | Patho. | Ap | Asd | C | Co | G | Mc | Mt | Ny | Sc | Pat. Info. | Ref. |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c.94G>A | p.Ser13Asp | ms | AD | nr | y | m | n | n | y, cg | n | n | n | n | n | n | Proband | (Semina et al., 1998) |
| c.542delC | p.Pro181LeufsX127 | fs | AD | nr | y | m | n | n | y, po | n | n | n | n | n | n | Proband | (Berry et al., 2011) |
| c.542delC | p.Pro181LeufsX127 | fs | AD | nr | y | m | n | n | y, po | n | n | n | n | n | n | Eight affected family members | |
| c.573del | p.Ser192AlafsX117 | fs | AD | Exp-d | n | m | n | n | y, cg | y | n | y | n | n | n | Proband | (Verdin et al., 2014) |
| c.573del | p.Ser192AlafsX117 | fs | AD | Exp-d | n | m | n | n | y, cg | y | n | y | n | n | n | Brother of proband | |
| c.573del | p.Ser192AlafsX117 | fs | AD | Exp-d | n | m | n | n | y, cg | n | n | y | n | n | n | Father of proband | |
| c.608delC | p.Ala203fs | fs | NA | nr | n | m | n | n | y, cg | n | n | n | n | n | n | Seven affected family members | (Liu et al., 2017) |
| c.640_656del | p.Ala214ArgfsX42 | fs | AR | nr | y | m | n | y | y, cg | n | n | n | y | n | y | Proband | (Aldahmesh et al., 2011) |
| c.650delG | p.Gly217AlafsX91 | fs | AD | nr | n | m | n | n | y, po | n | n | n | n | n | n | Six affected family members | (Berry et al., 2004) |
| c.650delG | p.Gly217AlafsX91 | fs | AD | nr | n | m | n | n | y, po | y | n | n | y | n | n | Twenty-eight affected family members | Bidinost et al 2006 |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | NA | nr | n | m | n | y | n | n | n | n | n | n | n | Eight affected family members | (Semina et al., 1998) |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | nr | n | m | n | n | y, cg, po,ec | n | n | n | n | n | n | Nine affected family members | (Berry et al., 2004) |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | nr | n | m | n | y | y, cg, po,ec | n | n | n | n | n | n | One affected family members | |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | nr | n | m | n | n | y, po | n | n | n | n | n | n | Seven affected family members | (Berry et al., 2004) |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | nr | n | m | n | y | y, po | n | n | n | n | n | n | Four affected family members | |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | nr | n | m | n | n | y, po | n | n | n | n | n | n | Seventeen affected family members | (Berry et al., 2004) |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | nr | n | m | n | n | y, po | n | n | n | n | n | n | Eighteen affected family members | (Berry et al., 2004) |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | nr | n | m | n | n | y, po | n | n | n | n | n | n | Twenty affected family members | (Finzi et al., 2005) |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | nr | n | m | y | n | y, po | n | n | n | n | y | n | One affected family member | (Burdon et al., 2006) |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | nr | n | m | n | n | y, po | n | n | n | n | n | n | Twenty eightaffected family member | |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | nr | n | m | n | n | y | y | n | n | n | n | n | Proband | (Summers et al., 2008) |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | Exp-d | n | m | n | n | y | y | n | n | n | n | n | Proband | (Verdin et al., 2014) |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | Exp-d | n | m | n | y | y, cg | n | n | n | n | n | n | Brother of proband | |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | Exp-d | n | m | n | n | y, cg | n | n | n | n | n | n | Father of proband | |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | Exp-d | n | m | n | n | y, cg | y | y | y | n | y | n | Proband | (Verdin et al., 2014) |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | Exp-d | n | m | n | n | y, cg | n | n | n | n | n | n | Five affected family members | |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | Exp-d | n | m | n | y | y, cg | y | n | n | n | n | n | Proband | (Verdin et al., 2014) |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | Exp-d | n | m | n | n | y, cg | n | n | n | n | n | n | Brother of proband | |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | Exp-d | n | m | n | n | y, cg | n | n | n | n | n | n | Mother of proband | |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | Exp-d | n | m | n | n | y, cg | y | n | n | n | y | n | Proband | (Verdin et al., 2014) |
| c.657_673dup17 | p.Gly220ProfsX95 | fs | AD | Exp-d | n | m | n | n | y, cg | n | n | n | n | n | n | Five affected family members |
Notes: NA, not reported in original article; Nuc. Pos., nucleotide position in CDS; AA Pos., amino acid position; Vt, variant type; fs, frameshift; ms, missense; ns, nonsense; nt, nonstop; AD, autosomal dominant; AR, autosomal recessive; NA, not available; Prot. Func, protein function; nr, not reported; Exp-d, experimental-damaging; n, no; y, yes; AA con., amino acid conservation; Patho., pathogenicity; m, maybe pathogenic; Ap, Aphakia; Asd, Anterior segment dysgenesis; C, Cataract; cg, congenital; ec, early childhood; po, polar; Co, Corneal opacity/abnormal cornea; G, Glaucoma; Mc, Microcornea; Mt, Microphthalmia; Ny, Nystagmus; Sc, Sclerocornea; Pt. Info., patient information; Ref., reference